| 18337101 |
Jedrzejowska M, Ryniewicz B, Kabzinska D, Drac H, Hausmanowa-Petrusewicz I, Kochanski A: A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3). Neuromuscul Disord. 2008 Apr;18(4):339-41. Epub 2008 Mar 11.
In the present study, we report a single Polish SMA family in which the 17p11.2-p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. |
12(0,0,2,2) |
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